Linked Data
ClinVar Variation Id:
1856
ClinVar RCV Id:
RCV000001930
dbSNP Id:
rs121434362
PubMed:
PMID:16037974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767718A>G , CM000664.2:g.241767718A>G | GRCh38 |
| NC_000002.11:g.242707133A>G , CM000664.1:g.242707133A>G | GRCh37 |
| NC_000002.10:g.242355806A>G | NCBI36 |
| NG_012012.1:g.38104A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321264.9:c.1315A>G MANE Select | ENSP00000315351.4:p.Asn439Asp | |
| ENST00000321264.8:c.1315A>G | ENSP00000315351.4:p.Asn439Asp | |
| ENST00000400769.6:c.*65A>G | ENSP00000383580.2:n.*65A>G | |
| ENST00000403782.5:c.913A>G | ENSP00000384723.1:p.Asn305Asp | |
| ENST00000436747.5:c.*2551A>G | ENSP00000400212.1:n.*2551A>G | |
| ENST00000445308.1:c.711A>G | ||
| ENST00000468064.5:n.1205A>G | ||
| ENST00000470343.5:n.796A>G | ||
| ENST00000473126.1:n.514A>G | ||
| ENST00000486953.5:n.1139A>G | ||
| ENST00000610344.1:c.*159A>G | ENSP00000481906.1:n.*159A>G | |
| NM_001287249.1:c.913A>G | NP_001274178.1:p.Asn305Asp | |
| NM_152783.4:c.1315A>G | NP_689996.4:p.Asn439Asp | |
| NR_109778.1:n.1237A>G | ||
| XM_011511734.1:c.1435A>G | XP_011510036.1:p.Asn479Asp | |
| XM_011511735.1:c.1393A>G | XP_011510037.1:p.Asn465Asp | |
| XM_011511736.1:c.1357A>G | XP_011510038.1:p.Asn453Asp | |
| XM_011511744.1:c.*47A>G | XP_011510046.1:n.*47A>G | |
| XM_011511750.1:c.1227A>G | XP_011510052.1:p.Val409= | |
| XM_011511754.1:c.874A>G | XP_011510056.1:p.Asn292Asp | |
| XM_011511755.1:c.865A>G | XP_011510057.1:p.Asn289Asp | |
| XM_011511756.1:c.862A>G | XP_011510058.1:p.Asn288Asp | |
| XR_923004.1:n.1947A>G | ||
| XR_923007.1:n.1657A>G | ||
| XR_923011.1:n.1758A>G | ||
| NM_001352824.1:c.754A>G | NP_001339753.1:p.Asn252Asp | |
| XM_011511734.2:c.1435A>G | XP_011510036.1:p.Asn479Asp | |
| XM_011511735.2:c.1393A>G | XP_011510037.1:p.Asn465Asp | |
| XM_011511736.2:c.1357A>G | XP_011510038.1:p.Asn453Asp | |
| XM_011511744.2:c.*47A>G | XP_011510046.1:n.*47A>G | |
| XM_011511750.3:c.1227A>G | XP_011510052.1:p.Val409= | |
| XM_011511756.2:c.862A>G | XP_011510058.1:p.Asn288Asp | |
| XM_024453102.1:c.1207A>G | XP_024308870.1:p.Asn403Asp | |
| XR_001738918.2:n.1689A>G | ||
| XR_001738919.2:n.1623A>G | ||
| XR_923004.3:n.1946A>G | ||
| XR_923007.3:n.1656A>G | ||
| XR_923011.3:n.1757A>G | ||
| NM_152783.5:c.1315A>G MANE Select | NP_689996.4:p.Asn439Asp | |
| NM_001287249.2:c.913A>G | NP_001274178.1:p.Asn305Asp | |
| NM_001352824.2:c.754A>G | NP_001339753.1:p.Asn252Asp | |
| NR_109778.2:n.1186A>G |